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Article

Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia.

Hormone research - 1 Jan 2008

Liivak Kaur, Tobi Simon, Schlecht Helene, Tillmann Vallo

Abstract excerpt

AIMS: To determine the incidence of classical 21-hydroxylase deficiency (21-OHD) in Estonia from 1978 to 2004, and describe their phenotype and genotype. METHODS: All Estonian endocrinologists informed us about their patients with 21-OHD. The diagnosis was confirmed in 20 patients, who were all screened for 8 common mutations of the CYP21A2 gene. RESULTS: The 27-year period incidence was 1:25,500. The incidence...

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PMID: 18204270
DOI: 10.1159/000113023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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